Canonical Allele Identifier: PA092049
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189007
ClinVar RCV Id: RCV000169391 RCV002223801
ClinVar Variation Id: 2441622
ClinVar RCV Id: RCV003144097 RCV003778883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Trp481Arg
CA274247
NM_000152.5:c.1441T>C
CA401366772
NM_000152.5:c.1441T>A